Canonical Allele Identifier: CA402158196

Gene: TTR

Linked Data

• MyVariant Identifiers: chr18:g.29178573A>T (hg19) ; chr18:g.31598610A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598610A>T , CM000680.2:g.31598610A>T	GRCh38
NC_000018.9:g.29178573A>T , CM000680.1:g.29178573A>T	GRCh37
NC_000018.8:g.27432571A>T	NCBI36
NG_009490.1:g.11844A>T , LRG_416:g.11844A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.379A>T MANE Select	ENSP00000237014.4:p.Ile127Phe
ENST00000610404.5:c.283A>T	ENSP00000477599.2:p.Ile95Phe
ENST00000649620.1:c.379A>T	ENSP00000497927.1:p.Ile127Phe
ENST00000237014.7:c.379A>T	ENSP00000237014.3:p.Ile127Phe
ENST00000610404.4:c.493A>T	ENSP00000477599.1:p.Ile165Phe
ENST00000613781.1:c.375+4A>T	ENSP00000479174.1:n.375+4A>T
NM_000371.3:c.379A>T , LRG_416t1:c.379A>T	NP_000362.1:p.Ile127Phe
NM_000371.4:c.379A>T MANE Select	NP_000362.1:p.Ile127Phe